1 |
New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.
53
62
57
5
|
Vuissoz JM...Mullis PE
|
11549695 |
2001 |
2 |
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
62
57
5
|
Borck G...Pohlenz J
|
15292359 |
2004 |
3 |
Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.
62
57
5
|
Brumm H...Gruters A
|
12364478 |
2002 |
4 |
Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.
62
57
5
|
Pohlenz J...Refetoff S
|
11788671 |
2002 |
5 |
Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.
62
57
5
|
Doeker BM...Andler W
|
9589689 |
1998 |
6 |
Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.
62
57
5
|
Dacou-Voutetakis C...Dracopoli NC
|
1971148 |
1990 |
7 |
Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit.
62
57
5
|
Hayashizaki Y...Matsubara K
|
2792087 |
1989 |
8 |
Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene.
57
5
|
Bonomi M...Persani L
|
11297590 |
2001 |
9 |
A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.
57
5
|
Medeiros-Neto G...Wondisford FE
|
8636437 |
1996 |
10 |
Isolated thyrotropin deficiency in a man with narcoleptic attacks.
62
57
|
Nygren A...Rojdmark S
|
6293273 |
1982 |
11 |
Pituitary cretinism in two sisters.
62
57
|
Kohno H...Gohya N
|
7436542 |
1980 |
12 |
Elevated plasma TSH and hypothyroidism in children with hypothalamic hypopituitarism.
62
57
|
Illig R...Prader A
|
809459 |
1975 |
13 |
Familial isolated thyrotropin deficiency with cretinism.
62
57
|
Miyai K...Kumahara Y
|
4106196 |
1971 |
14 |
Congenital thyrotropin deficiency--from discovery to molecular biology, postgenome and preventive medicine.
5
|
Miyai K
|
17287585 |
2007 |
15 |
Thyrotropin secretion in patients with central hypothyroidism: evidence for reduced biological activity of immunoreactive thyrotropin.
57
|
Faglia G...Spada A
|
109460 |
1979 |
16 |
The secretion of thyrotrophin with impaired biological activity in patients with hypothalamic-pituitary disease.
57
|
Petersen VB...Hall R
|
647990 |
1978 |
17 |
Glandular end organ deficiency associated with secretion of biologically inactive pituitary peptides.
57
|
Krieger DT
|
4364811 |
1974 |
18 |
Enzymatic synthesis of thyrotropin releasing hormone (TRH) by hypothalamic "TRH synthetase".
57
|
Mitnick M...Reichlin S
|
4627366 |
1972 |
19 |
Hypothalamic hypothyroidism.
57
|
Pittman JA...Pittman CS
|
4998943 |
1971 |
20 |
Studies in pseudohypoparathyroidism. Two new cases with a probable selective deficiency of thyrotropin.
57
|
Zisman E...Bartter FC
|
5780370 |
1969 |
21 |
Thyrotropin hormone deficiency with a peripheral neuropathy.
57
|
Grabow JD...Chou SM
|
4301577 |
1968 |
22 |
Isolated lack of thyrotropin in man.
57
|
Sawin CT...McHugh JE
|
5926947 |
1966 |
23 |
Isolated deficiencies of anterior pituitary hormones. Symptoms and diagnosis.
57
|
Odell WD
|
4288285 |
1966 |
24 |
W194XProp1 and S156insTProp1, both of which have intact DNA-binding domain, show a different DNA-binding activity to the Prop1-binding element in human Pit-1 gene.
53
62
|
Shibahara H...Okimura Y
|
20381582 |
2010 |
25 |
Hypopituitarism oddities: congenital causes.
53
62
|
Kelberman D...Dattani MT
|
18174732 |
2007 |
26 |
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.
53
62
|
Reynaud R...Barlier A
|
16735499 |
2006 |
27 |
A case of macroprolactinoma and elevated insulin-like growth factor-I in a young boy.
53
62
|
Eyal O...Elder DA
|
16421054 |
2005 |
28 |
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
53
62
|
Turton JP...Dattani MT
|
15928241 |
2005 |
29 |
PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.
53
62
|
Bottner A...Pfaffle RW
|
15472232 |
2004 |
30 |
DNA testing in patients with GH deficiency at the time of transition.
53
62
|
Dattani MT
|
12914740 |
2003 |
31 |
Efficacy of radiotherapy in normalizing serum IGF-I, acid-labile subunit (ALS) and IGFBP-3 levels in acromegaly.
53
62
|
Epaminonda P...Arosio M
|
11531924 |
2001 |
32 |
Severe hypoglycemia and reduction of insulin requirement in a girl with insulin-dependent diabetes mellitus: first sign of a craniopharyngioma.
53
62
|
Lebl J...Kolouskova S
|
10703545 |
1999 |
33 |
Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).
53
62
|
Fluck C...Mullis PE
|
9768691 |
1998 |
34 |
Genetic basis of congenital hypothyroidism: abnormalities in the TSHbeta gene, the PIT1 gene, and the NIS gene.
53
62
|
Tatsumi K...Amino N
|
9806481 |
1998 |
35 |
Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency.
53
62
|
Fofanova OV...Yamashita S
|
9632165 |
1998 |
36 |
Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.
53
62
|
Pernasetti F...Martial JA
|
9626142 |
1998 |
37 |
Autosomal recessive deficiency of combined pituitary hormones (except ACTH) in a consanguineous Brazilian kindred.
53
62
|
Nogueira CR...Medeiros-Neto GA
|
9699131 |
1998 |
38 |
Description of a Brazilian patient bearing the R271W Pit-1 gene mutation.
53
62
|
Rodrigues Martineli AM...Graf H
|
9588494 |
1998 |
39 |
Central hypothyroidism reveals compound heterozygous mutations in the Pit-1 gene.
53
62
|
Brown MR...Hurley DL
|
9485179 |
1998 |
40 |
Autosomal recessive deficiency of combined pituitary hormones (except ACTH) in a consanguineous Brazilian kindred.
53
62
|
Nogueira CR...Medeiros-Neto GA
|
9438923 |
1997 |
41 |
GH and TSH deficiency.
53
62
|
Pfaffle RW...Heimann G
|
9439906 |
1997 |
42 |
[Homeoproteins and pituitary adenoma].
53
62
|
Barlier A...Enjalbert A
|
9207961 |
1997 |
43 |
[Molecular genetics of congenital isolated thyrotropin deficiency].
53
62
|
Miyai K
|
8196185 |
1994 |
44 |
Congenital hypothyroidism: etiology and pathogenesis.
53
62
|
Gentile F...Aloj SM
|
7879996 |
1994 |
45 |
[Mechanism of regulation of TSH--biosynthesis and secretion].
53
62
|
Nakamura H...Nakao K
|
8254929 |
1993 |
46 |
[Acquired corticotropin insufficiency in adults. 2 new cases].
53
62
|
Veyssier-Belot C...Godeau P
|
8191076 |
1993 |
47 |
Genetics of growth hormone gene expression.
53
62
|
Parks JS...Brown MR
|
8300051 |
1993 |
48 |
Rapid detection of a point mutation in thyroid-stimulating hormone beta-subunit gene causing congenital isolated thyroid-stimulating hormone deficiency.
53
62
|
Mori R...Sawada K
|
1811097 |
1991 |
49 |
A case of severe pituitary dwarfism associated with prolactin and thyroid stimulating hormone deficiencies.
53
62
|
Yoshimoto M...Tsuji Y
|
2085115 |
1990 |
50 |
Deoxyribonucleic acid analyses of five families with familial inherited thyroid stimulating hormone deficiency.
53
62
|
Hayashizaki Y...Labbe A
|
2401711 |
1990 |